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Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

Oerton, J; Khalid, JM; Besley, G; Dalton, RN; Downing, M; Green, A; Henderson, M; ... Dezateux, C; + view all (2011) Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. J Med Screen , 18 (4) 173 - 181. 10.1258/jms.2011.011086. Green open access

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Abstract

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain.

Type: Article
Title: Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies
Location: England
Identifier: PMCID: PMC3243649
Open access status: An open access version is available from UCL Discovery
DOI: 10.1258/jms.2011.011086
Publisher version: http://dx.doi.org/10.1258/jms.2011.011086
Language: English
Additional information: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Acyl-CoA Dehydrogenase, Asian Continental Ancestry Group, Decision Trees, England, Ethnic Groups, European Continental Ancestry Group, Female, Genetic Testing, Genetic Variation, Humans, Infant, Newborn, Lipid Metabolism, Inborn Errors, Male, Neonatal Screening, Pilot Projects, Predictive Value of Tests, Prevalence, Prospective Studies, Reproducibility of Results
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Infect, Imm, Infla. and Physio Med
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Pop, Policy and Practice Prog
URI: https://discovery.ucl.ac.uk/id/eprint/1334551
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